Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.R413H
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RPE65

NM_000329.3:p.R413H

Associated Papers

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Abdul R et al.

Investigative Ophthalmology & Visual Science, 2025

40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Wu J et al.

Peerj, 2023

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S1_Africa

Genetic Basis of De Novo Appearance of Carotenoid Ornamentation in Bare Parts of Canaries.

Gazda MA et al.

Molecular Biology and Evolution, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."